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HK1 Gene

protein-coding   GIFtS: 71
GCID: GC10P071031

Hexokinase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hexokinase 11 2     HK1-tb2
Brain Form Hexokinase2 3     HK1-tc2
Hexokinase Type I2 3     HKI2
HK I2 3     HXK12
EC 2.7.1.13 8     Glycolytic Enzyme2
HKD2 5     hexokinase-12
HMSNR2 5     EC 2.7.18
HK1-ta2     

External Ids:    HGNC: 49221   Entrez Gene: 30982   Ensembl: ENSG000001565157   OMIM: 1426005   UniProtKB: P193673   

Export aliases for HK1 gene to outside databases

Previous GC identifers: GC10P069840 GC10P070116 GC10P070922 GC10P070374 GC10P070699 GC10P065029


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HK1 Gene:
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism
pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of
mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency.
Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of
which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical
among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop
codons, it is not thought to encode a protein. (provided by RefSeq, Apr 2009)

GeneCards Summary for HK1 Gene:
HK1 (hexokinase 1) is a protein-coding gene. Diseases associated with HK1 include neuropathy, hereditary motor and sensory, russe type, and hemolytic anemia due to hexokinase deficiency. GO annotations related to this gene include glucokinase activity and mannokinase activity. An important paralog of this gene is HK3.

summary for HK1 Gene:
Mitochondrial Hexokinases catalyze the first essential step of glucose metabolism, the conversion of glucose
into glucose-6-phosphate. This directly couples extramitochondrial glycolysis to intramitochondrial
oxidative phosphorylation. There are two subtypes of mitochondrial hexokinases, HK1 and HK2, each of which
has four isozymes designated hexokinase I, II, III and IV. HK1 and HK2 are both localized to the outer
mitochondrial membrane, with HK1 being found in nervous tissue and HK2 in insulin-responsive tissues such as
skeletal muscle. Activation of mitochondrial hexokinases is regulated by Akt/PKB-mediated phosphorylation
and they are subject to inhibiton by their end product, glucose-6-phosphate. In addition to glucose
metabolism, mitochondrial hexokinases have been implicated in antiapoptotic and cell survival signaling.

Gene Wiki entry for HK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HK1 gene promoter:
         Max1   HNF-4alpha1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HK1 promoter sequence
   Search Chromatin IP Primers for HK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22

HK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HK1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P071031:  view genomic region     (about GC identifiers)

Start:
71,029,740 bp from pter      End:
71,161,638 bp from pter
Size:
131,899 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367 (See protein sequence)
Recommended Name: Hexokinase-1  
Size: 917 amino acids; 102486 Da
Subunit: Monomer. Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts
with VDAC1. The HK1-VDAC1 complex interacts with ATF2
Miscellaneous: In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I,
II, III and IV (glucokinase)
Selected PDB 3D structures from and Proteopedia for HK1 (see all 10):
1CZA (3D)        1DGK (3D)        1HKB (3D)        1HKC (3D)        1QHA (3D)        4F9O (3D)    
Secondary accessions: E9PCK0 O43443 O43444 O75574 Q5VTC3 Q96HC8 Q9NNZ4 Q9NNZ5
Alternative splicing: 4 isoforms:  P19367-1   P19367-2   P19367-3   P19367-4   

Explore the universe of human proteins at neXtProt for HK1: NX_P19367

Explore proteomics data for HK1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys187, Lys191, Lys333, Lys418
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HK1 (P19367) (see all 42)
     DIRTEFD  EWGAFGD  TMMTCGY  DCVSVQH 


    See HK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000179.2  NP_277031.1  NP_277032.1  NP_277033.1  NP_277035.2  

    ENSEMBL proteins: 
     ENSP00000409761   ENSP00000398316   ENSP00000415949   ENSP00000352398   ENSP00000402103  
     ENSP00000384774   ENSP00000353433   ENSP00000298649  
    Reactome Protein details: P19367

    HK1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HK1 (Hexokinase 1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HK1
    OriGene Protein Over-expression Lysate for HK1
    OriGene MassSpec for HK1
    OriGene Custom Protein Services for HK1
    GenScript Custom Purified and Recombinant Proteins Services for HK1
    Novus Biologicals HK1 Proteins
    Novus Biologicals HK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HK1
    Cloud-Clone Corp. Proteins for HK1

    HK1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HK1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for HK1 
    OriGene Antibodies for HK1
    OriGene Custom Antibody Services for HK1
    Novus Biologicals HK1 Antibodies
    Abcam antibodies for HK1
    Cloud-Clone Corp. Antibodies for HK1
    ThermoFisher Antibody for HK1
    LSBio Antibodies in human, mouse, rat for HK1

    HK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HK1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HK1
    Cloud-Clone Corp. CLIAs for HK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR019807 Hexokinase_CS
     IPR001312 Hexokinase
     IPR022672 Hexokinase_N
     IPR022673 Hexokinase_C

    Graphical View of Domain Structure for InterPro Entry P19367

    ProtoNet protein and cluster: P19367

    1 Blocks protein domain: IPB001312 Hexokinase

    UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367
    Domain: The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The
    catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus.
    Each domain can bind a single glucose and Gluc-6-P molecule
    Similarity: Belongs to the hexokinase family
    Similarity: Contains 2 hexokinase type-1 domains
    Similarity: Contains 2 hexokinase type-2 domains


    HK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HXK1_HUMAN, P19367
    Catalytic activity: ATP + D-hexose = ADP + D-hexose 6-phosphate
    Enzyme regulation: Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P

         Genatlas biochemistry entry for HK1:
    hexokinase 1,108kDa,glycolysis and gluconeogenesis,energy pathway,red blood specific with two isoforms
    HK1,universally expressed,and an erythroid specific isoform AXR derived from the HK1 gene by the alternate use of
    a specific promoter and an alternative splicing

         Enzyme Numbers (IUBMB): EC 2.7.1.11 2 EC 2.7.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004340glucokinase activity IBA--
    GO:0004396hexokinase activity TAS3207429
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008865fructokinase activity IBA--
         
    HK1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hk1):
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  renal/urinary system  reproductive system 

    HK1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HK1:
    hsa-mir-10b-5p (MIRT047433), hsa-mir-10a-5p (MIRT047612), hsa-mir-615-3p (MIRT039926), hsa-mir-30a-5p (MIRT028427), hsa-mir-93-5p (MIRT048894), hsa-let-7b-5p (MIRT052337), hsa-mir-23b-3p (MIRT046245), hsa-mir-99b-5p (MIRT044199), hsa-mir-1296-5p (MIRT036117)

    Block miRNA regulation of human, mouse, rat HK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HK1 (see all 31):
    hsa-miR-520e hsa-miR-302d hsa-miR-520d-5p hsa-miR-4288 hsa-miR-632 hsa-miR-4299 hsa-miR-302e hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidHK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HK1
    Predesigned siRNA for gene silencing in human, mouse, rat HK1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HK1

    Clone
    Products:
         
    OriGene clones in human, mouse for HK1 (see all 29)
    OriGene ORF clones in mouse, rat for HK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): HK1 (NM_033496)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HK1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HK1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HK1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HXK1_HUMAN, P19367: Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in
    membrane binding
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    nucleus4
    chloroplast2
    endoplasmic reticulum2
    extracellular2
    plasma membrane2
    cytoskeleton1
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005829cytosol TAS--
    GO:0045121membrane raft IEA--

    HK1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HK1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    glycolysis0.00
    2Galactose metabolism
    Galactose metabolism0.44
    Butirosin and neomycin biosynthesis0.00
    Galactose metabolism0.44
    Cori Cycle0.00
    3Glucuronidation
    Glucuronidation0.61
    Glycogen metabolism0.00
    Starch and sucrose metabolism0.41
    4Carbon metabolism
    Carbon metabolism0.38
    Pentose Phosphate Pathway (Erythrocyte)0.00
    5Metabolism
    Metabolism0.38
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for HK1
        Glucose / Energy Metabolism

    3 GeneGo (Thomson Reuters) Pathways for HK1
        Galactose metabolism
    Glycogen metabolism
    Glycolysis and gluconeogenesis (short map)

    Selected BioSystems Pathways for HK1 (see all 6)
        Glucuronidation
    Glycolysis and Gluconeogenesis
    glycolysis
    HIF-1-alpha transcription factor network
    conversion of glucose to acetyl CoA and entry into the TCA cycle

    1 Reactome Pathway for HK1
        Glucose transport

    1 PharmGKB Pathway for HK1
        Pentose Phosphate Pathway (Erythrocyte)

    Selected Kegg Pathways  (Kegg details for HK1) (see all 12):
        Glycolysis / Gluconeogenesis
    Fructose and mannose metabolism
    Galactose metabolism
    Starch and sucrose metabolism
    Amino sugar and nucleotide sugar metabolism

    UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367
    Pathway: Carbohydrate metabolism; hexose metabolism


    HK1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HK1
    Interactions:

        GeneGlobe Interaction Network for HK1

    Selected Interacting proteins for HK1 (P193671, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 262)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    VDAC1P217961, 2, 3EBI-713162,EBI-354158 MINT-8079030 I2D: score=1 
    ENO2P091042, 3MINT-63432 I2D: score=4 
    SCMH1Q96GD32, 3MINT-63526 I2D: score=4 
    ICT1Q141972, 3MINT-8079030 I2D: score=1 
    ATG101Q9BSB43I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001678cellular glucose homeostasis IBA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006096glycolytic process IBA--
    GO:0008219cell death IEA--
    GO:0008645hexose transport TAS--

    HK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for HK1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    2-Deoxy-D-glucoseNon-metabolizable glucose analog; hexokinase substrate[154-17-6]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]

    8 HMDB Compounds for HK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-MannoseDL-mannose (see all 13)3458-28-4--
    Glucosamine2-Amino-2-deoxy-D-glucopyranose (see all 10)3416-24-8--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--

    4 DrugBank Compounds for HK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423
    Alpha-D-Glucose-6-Phosphate-- --target--17139284 17016423
    Beta-D-Glucose-- 50-99-7target--17139284 17016423
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for HK1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 6-phosphate 82.7 53 16166083 (7), 10531306 (5), 17949503 (4), 9493266 (3) (see all 19)
    glucose 68.5 82 12690200 (3), 9493266 (3), 8446591 (2), 9735292 (2) (see all 38)
    glycogen 52.8 15 18165236 (3), 8798601 (3), 10438462 (1), 9486162 (1)
    atp 51.7 17 9422720 (3), 10574795 (2), 8855953 (2), 8215417 (1) (see all 9)
    18f fluorodeoxyglucose 48.1 8 15509640 (4), 18695903 (2)
    mgatp 47.3 2 15724432 (1)
    digitonin 46.5 1 7683206 (1)
    pyruvate 42.5 4 10438462 (1), 9215806 (1), 9166680 (1)
    2-deoxyglucose 37.6 1 16555088 (1)
    dextran 31 3 7683206 (1)



    HK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HK1 gene (5 alternative transcripts): 
    NM_000188.2  NM_033496.2  NM_033497.2  NM_033498.2  NM_033500.2  

    Unigene Cluster for HK1:

    Hexokinase 1
    Hs.370365  [show with all ESTs]
    Unigene Representative Sequence: AK128226
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450646 ENST00000464803 ENST00000480047(uc009xqc.1) ENST00000479594
    ENST00000483077 ENST00000476368 ENST00000483054 ENST00000488644 ENST00000421088
    ENST00000436817 ENST00000359426(uc009xqd.3 uc001jpl.4) ENST00000493591
    ENST00000494253 ENST00000470050 ENST00000448642(uc001jpj.4) ENST00000404387
    ENST00000360289(uc001jpg.4 uc001jph.4 uc001jpi.4) ENST00000298649(uc001jpk.4)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HK1 (see all 31):
    hsa-miR-520e hsa-miR-302d hsa-miR-520d-5p hsa-miR-4288 hsa-miR-632 hsa-miR-4299 hsa-miR-302e hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidHK1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HK1
    Predesigned siRNA for gene silencing in human, mouse, rat HK1
    Clone
    Products:
         
    OriGene clones in human, mouse for HK1 (see all 29)
    OriGene ORF clones in mouse, rat for HK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): HK1 (NM_033496)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HK1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HK1
    OriGene qSTAR qPCR primer pairs in human, mouse for HK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HK1
      QuantiTect SYBR Green Assays in human, mouse, rat HK1
      QuantiFast Probe-based Assays in human, mouse, rat HK1

    Additional mRNA sequence: 

    AB209526.1 AF073786.2 AK091267.1 AK128226.1 AK292012.1 AK294428.1 AK309904.1 BC008730.2 
    BC128210.1 M75126.1 U38226.1 U38227.1 U38228.1 X66957.1 

    20 DOTS entries:

    DT.452205  DT.100663278  DT.100030671  DT.100663271  DT.100663265  DT.91762069  DT.97779307  DT.99995823 
    DT.91762076  DT.100030669  DT.97820459  DT.100707784  DT.85104252  DT.91762074  DT.91762077  DT.95373797 
    DT.95373800  DT.97806338  DT.95373795  DT.95373803 

    Selected AceView cDNA sequences (see all 553):

    BQ932996 AA300273 CD515718 AW515702 CR608450 AI539476 AW469215 BM853722 
    AW517481 AW515427 AW083215 BM699800 AW250869 BM702024 AK128226 BU675197 
    AA357507 BI770909 BQ428559 BM989033 BG574401 BM826385 BU752082 BM450467 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HK1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:              -     -                             -     -     -     -     -                                                                                 
    SP2:                                                                          -                                                                                 
    SP3:        -                             -           -                                                                                                         
    SP4:                                                                    -     -                                                                                 
    SP5:                                      -                                                                                                                     

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for HK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTGATTTT
    HK1 Expression
    About this image


    HK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    HK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370365

    UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367
    Tissue specificity: Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HK1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hk11 , 5 hexokinase 11, 5 86.8(n)1
    92.8(a)1
      10 (32.37 cM)5
    152751  NM_001146100.11  NP_001139572.11 
     622688555 
    chicken
    (Gallus gallus)
    Aves HK11 hexokinase 1 79.28(n)
    88.05(a)
      373889  NM_204101.1  NP_989432.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia hk1-A2 hexokinase I 76.07(n)    AF288471.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC048065.12   -- 77.67(n)    BC048065.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hex-A1 , 3 hexokinase3
    Hexokinase A1
    46(a)
    (best of 4)3
    55.28(n)1
    48.97(a)1
      1 8E103
    458751  NM_080109.41  NP_524848.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F14B4.23 hexokinase 46(a)
    (best of 3)
      I(9279949-9281838)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HXK21 HXK2 46.3(n)
    38.24(a)
      852639   NP_011261.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HXK21 HXK2 46.51(n)
    40.48(a)
      816505  NM_127544.2  NP_179576.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07425001 Os01g0742500 49.73(n)
    41.23(a)
      4326547  NM_001050749.1  NP_001044214.1 


    ENSEMBL Gene Tree for HK1 (if available)
    TreeFam Gene Tree for HK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HK1 gene
    HK32  HKDC12  HK22  GCK2  
    10 SIMAP similar genes for HK1 using alignment to 5 protein entries:     HXK1_HUMAN (see all proteins):
    HK1-tb    HKDC1    DKFZp686M1669    HK2    L3MBTL2    GCK
    HK3    ETFA    HK1-tc    RHBDD3

    HK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HK1 (see all 3506)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0237804
    Hexokinase deficiency (HK deficiency)4--see VAR_0237802 T S mis40--------
    VAR_0098784
    Hexokinase deficiency (HK deficiency)4--see VAR_0098782 L S mis40--------
    rs348185011,2
    C--65028564(+) AAAAA-/AGTTTT 3 -- us2k10--------
    rs1428263971,2
    C--65038388(+) AGTTG-/TTTTTT 3 -- int10--------
    rs719909331,2
    C--65041161(+) TTAGA-/TGTTGTGG 3 -- int10--------
    rs353763031,2
    C--65042552(+) AATAC-/AAAAAA 3 -- int11Minor allele frequency- A:0.00NA 2
    rs1113358691,2
    C,F--65042612(+) CGGAGG/TCTGAG 3 -- int11Minor allele frequency- T:0.50NA 2
    rs756326301,2
    F--65046895(-) GTTTCC/TTGAAG 3 -- int12Minor allele frequency- T:0.33NA 6
    rs351040961,2
    C--65058323(+) AAAAA-/AGTAGA 3 -- int11Minor allele frequency- A:0.50NA 2
    rs785240561,2
    --65058323(+) AAAGGG/AAAAAA 3 -- int11Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for HK1 (71029740 - 71161638 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669212CNV Deletion23128226
    esv2738106CNV Deletion23290073
    nsv524428CNV Loss19592680
    nsv508589CNV Loss20534489
    nsv895696CNV Gain21882294
    nsv895695CNV Gain21882294
    dgv297e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HK1
    DNA2.0 Custom Variant and Variant Library Synthesis for HK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 142600   
    OMIM disorders: 235700  605285  
    UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367
  • Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic
    hemolytic anemia as the predominant clinical feature. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Hereditary motor and sensory neuropathy, Russe type (HMSNR) [MIM:605285]: An autosomal recessive
    progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb
    weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually
    occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and
    areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities
    in the demyelinating range as well as a length-dependent axonopathy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for HK1 (see all 34):    
    About MalaCards
    neuropathy, hereditary motor and sensory, russe type    hemolytic anemia due to hexokinase deficiency    hemolytic anemia    psychotic disorder
    hyperinsulinism    autosomal recessive disease    spina bifida    attention deficit hyperactivity disorder
    hyperglycemia    malignant glioma    thyroid cancer    labyrinthitis
    neuropathy    nasopharyngitis    choroiditis    diabetes mellitus
    cervical cancer    thyroiditis    cervicitis    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for HK1:
    Diabetes mellitus     Hyperglycemia     Hepatocellular carcinoma

    HK1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for HK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioma 19.6 5 18695903 (2), 10912295 (1), 8826847 (1), 7622299 (1)
    primary tumor 17.6 11 15509640 (3), 19235753 (2)
    tumors 12.1 21 19235753 (4), 19049977 (2), 18632830 (1), 16555088 (1)
    cancer 8.36 1 19689405 (1)
    metastasis 3.51 4 16841142 (1), 15509640 (1), 19235753 (1)
    breast cancer 0 1 15127240 (1)
    anemia 0 1 19651813 (1)

    Genatlas disease: HK1
    hemolytic anemia including type I with a reduced activity of HK1,found in
    RBC,lymphocytes,platelets,fibroblats,type II with a decreased activity restricted to RBC

    Genetic Association Database (GAD): HK1
    Human Genome Epidemiology (HuGE) Navigator: HK1 (35 documents)

    Export disorders for HK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HK1 gene, integrated from 10 sources (see all 190):
    (articles sorted by number of sources associating them with HK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the 5' region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA. (PubMed id 10978502)1, 2, 9 Andreoni F.... Magnani M. (Biochim. Biophys. Acta 2000)
    2. Binding of non-catalytic ATP to human hexokinase I highlights the structural components for enzyme-membrane association control. (PubMed id 10574795)1, 2, 9 Rosano C.... Bolognesi M. (Structure 1999)
    3. Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphate. (PubMed id 9735292)1, 2, 9 Aleshin A.E.... Honzatko R.B. (J. Mol. Biol. 1998)
    4. Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits. (PubMed id 19651813)1, 4, 9 Bonnefond A....Froguel P. (Diabetes 2009)
    5. Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. (PubMed id 19096518)1, 4, 9 ParAc G....Ridker P.M. (PLoS Genet. 2008)
    6. The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate. (PubMed id 9493266)1, 2, 9 Aleshin A.E....Honzatko R.B. (Structure 1998)
    7. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). (PubMed id 19536174)1, 2, 9 Hantke J....Kalaydjieva L. (Eur. J. Hum. Genet. 2009)
    8. Crystal structures of mutant monomeric hexokinase I reveal multiple ADP binding sites and conformational changes relevant to allosteric regulation. (PubMed id 10686099)1, 2, 9 Aleshin A.E.... Honzatko R.B. (J. Mol. Biol. 2000)
    9. Identification of the cDNA for human red blood cell-specific hexokinase isozyme. (PubMed id 9028305)1, 2, 9 Murakami K. and Piomelli S. (Blood 1997)
    10. Human hexokinase type I microheterogeneity is due to different amino- terminal sequences. (PubMed id 1985912)1, 2, 9 Magnani M.... Stocchi V. (J. Biol. Chem. 1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3098 HGNC: 4922 AceView: HK1 Ensembl:ENSG00000156515 euGenes: HUgn3098
    ECgene: HK1 Kegg: 3098 H-InvDB: HK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HK1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Hexokinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HK1 gene:
    Search GeneIP for patents involving HK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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